진행하는 망막두께 감소를 보인 알포트증후군 1예 = Alport Syndrome with Progressive Decrease in Retinal Thickness: A Case Report

다국어 초록 (Multilingual Abstract)

Purpose: To report a case of progressive decrease in retinal thickness in a pediatric patient diagnosed with Alport syndrome.
Case summary: An 11-year-old boy diagnosed with Alport syndrome underwent ophthalmic examination. At the time of the first visit, his corrected visual acuity was 20/20 in the right eye and 20/20 in the left eye. No abnormalities in the lens were observed in slit-lamp biomicroscopy. On fundus examination, there was parafoveal dot-and-fleck retinopathy in both eyes. Optical coherence tomography showed no thickness reduction in retinal nerve fiber layers, but a thinner retina was found on the temporal side on macula comparison with the nasal side. He was followed regularly for 8 years. Corrected visual acuity of 20/20 was maintained in both eyes and no abnormality in the lens was observed on slit-lamp biomicroscopy, but optical coherence tomography showed a progressive decrease in retinal thickness.
Conclusions: This is the first reported case of progressive decrease in retinal thickness in an Alport syndrome patient without lens abnormalities.
Alport syndrome patients should undergo regular fundus examination and optical coherence tomography even when lens abnormalities are absent.

국문 초록 (Abstract)

목적: 알포트증후군으로 진단받은 소아 환자에서 전안부이상 없이 진행하는 망막두께 감소를 보인 증례를 경험하였기에 이를 보고하고자 한다.
증례요약: 11세 남자 환자가 신장내과 진료 후 알포트증후군 진단 하에 안과적 검진을 위해 의뢰되었다. 내원 당시 최대교정시력은 우안 1.0, 좌안 1.0이었다. 세극등현미경검사에서 특이 소견이 관찰되지 않았다. 안저검사에서 양안 중심와 주위 백색 반점 소견이 있었고 빛간섭단층촬영검사에서 망막신경섬유층의 감소 소견은 보이지 않았으나 이측 황반부 망막 얇아짐 소견이 관찰되었다. 이후 8년간의 경과 관찰에서 최대교정시력은 양안 1.0으로 유지되었으며 전안부이상도 관찰되지 않았으나 빛간섭단층촬영검사에서 망막의 두께는 점차 감소하는 양상을 보였다.
결론: 본 증례는 수정체이상 없이 망막이상만 보인 증례로 이전까지 보고된 백색 망막 반점 및 황반 이측 망막의 얇아짐 소견 이외에 진행성 이측 망막 위축이 확인된 증례였다. 본 증례로 보아 알포트증후군 환자에서 전안부 소견에 이상이 없더라도 정기적인 안저검사 및빛간섭단층촬영검사가 필요할 것으로 보인다.

참고문헌 (Reference)

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